Angelman Syndrome, also known as as, is related to angelman syndrome due to imprinting defect in 15q11-q13 and prader-willi syndrome, and has symptoms including constipation, seizures and tremor, limb. An important gene associated with Angelman Syndrome is UBE3A (Ubiquitin Protein Ligase E3A), and among its related pathways/superpathways are GABA B receptor activation and Prader-Willi and Angelman syndrome. The drugs Carbidopa and Levodopa have been mentioned in the context of this disorder. Affiliated tissues include tongue and skin, and related phenotypes are eeg abnormality and ataxia
About Angelman Syndrome
Related ID: | |
Inheritance: | Autosomal dominant |
Age Of Onset: | Symptoms may start to appear as an infant. |
Prevalence: | There are 1-9 cases per 100,000 people. |
Related Gene: | |
Disease Model: | |